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Human Disease Vocabulary Browser
The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database).

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Human Diseases/Syndromes Beginning with "N"

To see all annotations for a disease, click the disease name.

OMIM IDHuman Disease
608156 Nablus Mask-Like Facial Syndrome; NMLFS
614063 N-Acetylaspartate Deficiency; NACED
237310 N-Acetylglutamate Synthase Deficiency (1 mouse models)
125860 Nad(p)h Dehydrogenase, Quinone 1; NQO1
161000 Naegeli Syndrome
161100 Nailbeds, Pigmentation of
614157 Nail Disorder, Nonsyndromic Congenital, 10; NDNC10
161050 Nail Disorder, Nonsyndromic Congenital, 1; NDNC1
149300 Nail Disorder, Nonsyndromic Congenital, 2; NDNC2
151600 Nail Disorder, Nonsyndromic Congenital, 3; NDNC3
206800 Nail Disorder, Nonsyndromic Congenital, 4; NDNC4
164800 Nail Disorder, Nonsyndromic Congenital, 5; NDNC5
107000 Nail Disorder, Nonsyndromic Congenital, 6; NDNC6
605779 Nail Disorder, Nonsyndromic Congenital, 7; NDNC7
607523 Nail Disorder, Nonsyndromic Congenital, 8; NDNC8
614149 Nail Disorder, Nonsyndromic Congenital, 9; NDNC9
161070 Nail High-Sulfur Protein
161080 Nail Low-Sulfur Protein
256020 Nail-Patella-Like Renal Disease
161200 Nail-Patella Syndrome; NPS (5 mouse models)
302350 Nance-Horan Syndrome; NHS (3 mouse models)
600165 Nanophthalmos 1; NNO1
609549 Nanophthalmos 2; NNO2
611897 Nanophthalmos 3; NNO3
615972 Nanophthalmos 4; NNO4
161400 Narcolepsy 1; NRCLP1 (1 mouse models)
605841 Narcolepsy 2, Susceptibility To; NRCLP2
609039 Narcolepsy 3; NRCLP3
612417 Narcolepsy 4, Susceptibility To; NRCLP4
612851 Narcolepsy 5, Susceptibility To; NRCLP5
614223 Narcolepsy 6, Susceptibility To; NRCLP6
614250 Narcolepsy 7; NRCLP7
161470 Nasal Alar Collapse, Bilateral
161480 Nasal Bones, Absence of
161500 Nasal Groove, Familial Transverse
161530 Nasal Hyperpigmentation, Familial Transverse
255980 Nasodigitoacoustic Syndrome
607107 Nasopharyngeal Carcinoma
161550 Nasopharyngeal Carcinoma, Susceptibility to, 2
255990 Nathalie Syndrome
255995 Native American Myopathy; NAM
609981 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect; NKGCD
161600 Navicular Bone, Accessory
601214 Naxos Disease (1 mouse models)
161700 Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult
609284 Nemaline Myopathy 1; NEM1 (1 mouse models)
256030 Nemaline Myopathy 2; NEM2 (2 mouse models)
161800 Nemaline Myopathy 3; NEM3 (4 mouse models)
609285 Nemaline Myopathy 4; NEM4
605355 Nemaline Myopathy 5; NEM5
609273 Nemaline Myopathy 6; NEM6
610687 Nemaline Myopathy 7; NEM7
615348 Nemaline Myopathy 8; NEM8
615731 Nemaline Myopathy 9; NEM9
300539 Nephrogenic Syndrome of Inappropriate Antidiuresis; NSIAD
167030 Nephrolithiasis, Calcium Oxalate
612286 Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1; NPHLOP1
612287 Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2; NPHLOP2
605990 Nephrolithiasis, Uric Acid, Susceptibility to
310468 Nephrolithiasis, X-Linked Recessive, with Renal Failure; XRN
613550 Nephronophthisis 11; NPHP11
613820 Nephronophthisis 12; NPHP12
614377 Nephronophthisis 13; NPHP13
614844 Nephronophthisis 14; NPHP14
614845 Nephronophthisis 15; NPHP15
615382 Nephronophthisis 16; NPHP16
615862 Nephronophthisis 18; NPHP18
256100 Nephronophthisis 1; NPHP1
602088 Nephronophthisis 2; NPHP2 (1 mouse models)
604387 Nephronophthisis 3; NPHP3 (2 mouse models)
606966 Nephronophthisis 4; NPHP4
611498 Nephronophthisis 7; NPHP7 (1 mouse models)
613824 Nephronophthisis 9; NPHP9
613159 Nephronophthisis-Like Nephropathy 1; NPHPL1
551200 Nephropathy, Chronic Tubulointerstitial
256120 Nephropathy, Deafness, and Hyperparathyroidism
602114 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease
609469 Nephropathy, Progressive, with Deafness
609057 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (1 mouse models)
256150 Nephrosialidosis
256200 Nephrosis with Deafness and Urinary Tract and Digital Malformations
615861 Nephrotic Syndrome, Type 10; NPHS10
256300 Nephrotic Syndrome, Type 1; NPHS1 (4 mouse models)
600995 Nephrotic Syndrome, Type 2; NPHS2 (5 mouse models)
610725 Nephrotic Syndrome, Type 3; NPHS3
256370 Nephrotic Syndrome, Type 4; NPHS4
614199 Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities;
614196 Nephrotic Syndrome, Type 6; NPHS6
615008 Nephrotic Syndrome, Type 7; NPHS7
615244 Nephrotic Syndrome, Type 8; NPHS8
615573 Nephrotic Syndrome, Type 9; NPHS9
162020 Nerve Growth Factor, Alpha Subunit; NGFA
614008 Nestor-Guillermo Progeria Syndrome; NGPS
256500 Netherton Syndrome; NETH (8 mouse models)
256520 Neu-Laxova Syndrome 1; NLS1
616038 Neu-Laxova Syndrome 2; NLS2
162080 Neural Retina Leucine Zipper; NRL
182940 Neural Tube Defects (5 mouse models)
601634 Neural Tube Defects, Folate-Sensitive (2 mouse models)
301410 Neural Tube Defects, X-Linked
256550 Neuraminidase Deficiency (2 mouse models)
256700 Neuroblastoma, Susceptibility to (10 mouse models)
613013 Neuroblastoma, Susceptibility to, 2; NBLST2
613014 Neuroblastoma, Susceptibility to, 3; NBLST3
613015 Neuroblastoma, Susceptibility to, 4; NBLST4
613016 Neuroblastoma, Susceptibility to, 5; NBLST5
613017 Neuroblastoma, Susceptibility to, 6; NBLST6
613068 Neurodegeneration Due to Cerebral Folate Transport Deficiency
234200 Neurodegeneration with Brain Iron Accumulation 1; NBIA1
256600 Neurodegeneration with Brain Iron Accumulation 2A; NBIA2A (7 mouse models)
610217 Neurodegeneration with Brain Iron Accumulation 2B; NBIA2B
606159 Neurodegeneration with Brain Iron Accumulation 3; NBIA3 (1 mouse models)
614298 Neurodegeneration with Brain Iron Accumulation 4; NBIA4
300894 Neurodegeneration with Brain Iron Accumulation 5; NBIA5
615643 Neurodegeneration with Brain Iron Accumulation 6; NBIA6
615491 Neurodegeneration with Optic Atrophy, Childhood-Onset; NDGOA
603641 Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
256690 Neurofaciodigitorenal Syndrome
162210 Neurofibromatosis, Familial Spinal
601321 Neurofibromatosis-Noonan Syndrome; NFNS
162240 Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
162260 Neurofibromatosis, Type III, Mixed Central and Peripheral; NF3A
101000 Neurofibromatosis, Type II; NF2
162200 Neurofibromatosis, Type I; NF1 (15 mouse models)
162270 Neurofibromatosis, Type IV, of Riccardi; NF4
256720 Neurologic Disease, Infantile Multisystem, with Osseous Fragility
137200 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive; NMAN
601223 Neuronal Intestinal Dysplasia, Type B (3 mouse models)
603472 Neuronal Intranuclear Inclusion Disease
182960 Neuronopathy, Distal Hereditary Motor, Type I; HMN1
158590 Neuronopathy, Distal Hereditary Motor, Type IIA; HMN2A
608634 Neuronopathy, Distal Hereditary Motor, Type IIB; HMN2B (2 mouse models)
613376 Neuronopathy, Distal Hereditary Motor, Type IIC; HMN2C
615575 Neuronopathy, Distal Hereditary Motor, Type Iid; HMN2D
600794 Neuronopathy, Distal Hereditary Motor, Type Va; HMN5A
614751 Neuronopathy, Distal Hereditary Motor, Type Vb; HMN5B
158580 Neuronopathy, Distal Hereditary Motor, Type Viia; HMN7A
607641 Neuronopathy, Distal Hereditary Motor, Type Viib; HMN7B
551500 Neuropathy, Ataxia, and Retinitis Pigmentosa
605253 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive; CHN (3 mouse models)
162370 Neuropathy, Congenital, with Arthrogryposis Multiplex
605285 Neuropathy, Hereditary Motor and Sensory, Russe Type; HMSNR
601152 Neuropathy, Hereditary Motor and Sensory, Type VI; HSMN6
214370 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers
256855 Neuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive
162380 Neuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
608720 Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia
162400 Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A (1 mouse models)
613640 Neuropathy, Hereditary Sensory and Autonomic, Type Ic; HSAN1C
201300 Neuropathy, Hereditary Sensory and Autonomic, Type IIA; HSAN2A
613115 Neuropathy, Hereditary Sensory and Autonomic, Type IIB; HSAN2B
223900 Neuropathy, Hereditary Sensory and Autonomic, Type III; HSAN3 (3 mouse models)
608088 Neuropathy, Hereditary Sensory and Autonomic, Type I, with Cough and Gastroesophageal Reflux
608654 Neuropathy, Hereditary Sensory and Autonomic, Type V; HSAN5
614653 Neuropathy, Hereditary Sensory and Autonomic, Type VI; HSAN6 (1 mouse models)
615548 Neuropathy, Hereditary Sensory and Autonomic, Type VII; HSAN7 (1 mouse models)
256860 Neuropathy, Hereditary Sensory, Atypical
613708 Neuropathy, Hereditary Sensory, Type ID; HSN1D
614116 Neuropathy, Hereditary Sensory, Type IE; HSN1E
615632 Neuropathy, Hereditary Sensory, Type IF; HSN1F
614213 Neuropathy, Hereditary Sensory, Type IIC; HSN2C
256840 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive (1 mouse models)
310470 Neuropathy, Hereditary Sensory, X-Linked
602107 Neuropathy, Hereditary Thermosensitive
162500 Neuropathy, Hereditary, with Liability to Pressure Palsies; HNPP (3 mouse models)
256870 Neuropathy, Painful
162600 Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
257000 Neurovisceral Storage Disease with Curvilinear Bodies
610717 Neutral Lipid Storage Disease with Myopathy; NLSDM
162700 Neutropenia, Chronic Familial
257100 Neutropenia, Lethal Congenital, with Eosinophilia
607847 Neutropenia, Nonimmune Chronic Idiopathic, of Adults
202700 Neutropenia, Severe Congenital, 1, Autosomal Dominant; SCN1
613107 Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2 (1 mouse models)
610738 Neutropenia, Severe Congenital, 3, Autosomal Recessive; SCN3
612541 Neutropenia, Severe Congenital, 4, Autosomal Recessive; SCN4
615285 Neutropenia, Severe Congenital, 5, Autosomal Recessive; SCN5
616022 Neutropenia, Severe Congenital, 6, Autosomal Recessive; SCN6
300299 Neutropenia, Severe Congenital, X-Linked; SCNX
257150 Neutrophil Actin Dysfunction; NAD
162830 Neutrophilia, Hereditary (1 mouse models)
608068 Neutrophilic Dermatosis, Acute Febrile
608203 Neutrophil Immunodeficiency Syndrome
162820 Neutrophil Migration; NM
614323 Nevoid Hypermelanosis, Linear and Whorled; LWNH
163050 Nevus Anemicus
162900 Nevus, Epidermal
163100 Nevus Flammeus of Nape of Neck
607476 Newfoundland Rod-Cone Dystrophy; NFRCD
609643 Nguyen Syndrome
601358 Nicolaides-Baraitser Syndrome; NCBRS
257200 Niemann-Pick Disease, Type A (2 mouse models)
607616 Niemann-Pick Disease, Type B (2 mouse models)
257220 Niemann-Pick Disease, Type C1; NPC1 (16 mouse models)
607625 Niemann-Pick Disease, Type C2; NPC2 (1 mouse models)
163400 Nievergelt Syndrome
610445 Night Blindness, Congenital Stationary, Autosomal Dominant 1; CSNBAD1 (1 mouse models)
163500 Night Blindness, Congenital Stationary, Autosomal Dominant 2; CSNBAD2 (14 mouse models)
610444 Night Blindness, Congenital Stationary, Autosomal Dominant 3; CSNBAD3
310500 Night Blindness, Congenital Stationary, Type 1A; CSNB1A (1 mouse models)
257270 Night Blindness, Congenital Stationary, Type 1B; CSNB1B
613216 Night Blindness, Congenital Stationary, Type 1C; CSNB1C
613830 Night Blindness, Congenital Stationary, Type 1D; CSNB1D
614565 Night Blindness, Congenital Stationary, Type 1E; CSNB1E
615058 Night Blindness, Congenital Stationary, Type 1F; CSNB1F
300071 Night Blindness, Congenital Stationary, Type 2A; CSNB2A (7 mouse models)
610427 Night Blindness, Congenital Stationary, Type 2B; CSNB2B
251260 Nijmegen Breakage Syndrome (7 mouse models)
613078 Nijmegen Breakage Syndrome-Like Disorder; NBSLD
163600 Nipples Inverted
163700 Nipples, Supernumerary
163729 Nitric Oxide Synthase 3; NOS3
163850 Noduli Cutanei, Multiple, with Urinary Tract Abnormalities
605820 Nonaka Myopathy; NM (1 mouse models)
258660 Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility to
158250 Nondisjunction
163950 Noonan Syndrome 1; NS1 (4 mouse models)
605275 Noonan Syndrome 2; NS2
609942 Noonan Syndrome 3; NS3
610733 Noonan Syndrome 4; NS4 (2 mouse models)
611553 Noonan Syndrome 5; NS5 (2 mouse models)
613224 Noonan Syndrome 6; NS6
613706 Noonan Syndrome 7; NS7
615355 Noonan Syndrome 8; NS8
607721 Noonan Syndrome-Like Disorder with Loose Anagen Hair; NSLH
613563 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia; NSLL
170600 Normokalemic Periodic Paralysis
310600 Norrie Disease; ND (3 mouse models)
604901 North American Indian Childhood Cirrhosis; NAIC
164000 Nose, Anomalous Shape of
310465 N Syndrome; NSX
257350 Nuchal Bleb, Familial
184757 Nuclear Receptor Subfamily 5, Group A, Member 1; NR5A1
310650 Nuclear Ribonucleic Acid; NRNA
310700 Nystagmus 1, Congenital, X-Linked; NYS1
164100 Nystagmus 2, Congenital, Autosomal Dominant; NYS2
608345 Nystagmus 3, Congenital, Autosomal Dominant; NYS3
193003 Nystagmus 4, Congenital, Autosomal Dominant; NYS4
300589 Nystagmus 5, Congenital, X-Linked; NYS5
300814 Nystagmus 6, Congenital, X-Linked; NYS6
614826 Nystagmus 7, Congenital, Autosomal Dominant; NYS7
257400 Nystagmus, Congenital, Autosomal Recessive
164150 Nystagmus, Hereditary Vertical
310800 Nystagmus, Myoclonic

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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory